Evaluation of an automatic HPLC analyser for thalassemia and haemoglobin variants screening

In this paper the authors report the evolution of a new automatic HPLC analyser for screening haemoglobinopathies. HbA2 and F determinations are accurate and reproducible. The analysis time is short (6.5 min) and there is a good separation between the HbA2 values of β-thalassemia carriers from normals and α-thalassemia carriers, with no overlap between these groups. In addition, the system is also able to detect and quantitate most of the haemoglobin variants, particularly those (HbS, HbC, HbE and Hb Lepore) able to interact with β-thalassemia and could make haemoglobin electrophoresis unnecessary in all samples. The ease of operation and the limited technical work make this system especially suitable for laboratories with a high workload and allow the cost of screening to be reduced

DESIGNING OF A RT REAL TIME PCR ASSAY BASED ON NS1 GENE FOR RAPID DETECTION OF USUTU VIRUS (USUV)

Introduction: Usutu virus belongs to the Japanese encephalitis virus group (the isolates exhibited 97% identity) within the family Flaviviridae closely related to West Nile virus (WNV). Both share in nature an enzootic infectious cycle between avian hosts and mosquito vectors (i.e. Culex spp.). The distribution areal is expanding in several European countries, including Italy; the simultaneous spatial and temporal co-circulation of new flaviviruses require a new approaches in the laboratory diagnosis for Flaviviridae infection in humans

A self-sustaining endocytic-based loop promotes breast cancer plasticity leading to aggressiveness and pro-metastatic behavior

The subversion of endocytic routes leads to malignant transformation and has been implicated in human cancers. However, there is scarce evidence for genetic alterations of endocytic proteins as causative in high incidence human cancers. Here, we report that Epsin 3 (EPN3) is an oncogene with prognostic and therapeutic relevance in breast cancer. Mechanistically, EPN3 drives breast tumorigenesis by increasing E-cadherin endocytosis, followed by the activation of a \u3b2-catenin/TCF4-dependent partial epithelial-to-mesenchymal transition (EMT), followed by the establishment of a TGF\u3b2-dependent autocrine loop that sustains EMT. EPN3-induced partial EMT is instrumental for the transition from in situ to invasive breast carcinoma, and, accordingly, high EPN3 levels are detected at the invasive front of human breast cancers and independently predict metastatic rather than loco-regional recurrence. Thus, we uncover an endocytic-based mechanism able to generate TGF\u3b2-dependent regulatory loops conferring cellular plasticity and invasive behavior

Livelli della Procalcitonina nei primi giorni di vita: valore del test nella diagnosi di sepsi

La sepsi genera una risposta infiammatoria sistemica dell’organismo. Sepsi e shock settico hanno un alto tasso di mortalità, spesso dovuto a diagnosi e terapie tardive. La procalcitonina (PCT), marker di sepsi a elevato grado di specificità, è un precursore inattivo della calcitonina e aumenta nelle infezioni batteriche gravi, fungine e parassitarie. La sintesi e la secrezione sono indotte da TFN, IL-6, IL-1B, IL-2 e endotossine batteriche. Nei soggetti adulti sani la sua concentrazione è < 0.5 g/L , ma nei primi giorni di vita il cut-off è più alto sia nei neonati a termine che nei prematuri

An aggressive subtype of stage I lung adenocarcinoma with molecular and prognostic characteristics typical of advanced lung cancers

Purpose: The National Lung Cancer Screening Trial has confirmed that lung cancer mortality can be reduced if tumors are diagnosed early, that is, at stage I. However, a substantial fraction of stage I lung cancer patients still develop metastatic disease within 5 years from surgery. Prognostic biomarkers are therefore needed to identify patients at risk of an adverse outcome, who might benefit from multimodality treatment. Experimental Design: We extensively validated a 10-gene prognostic signature in a cohort of 507 lung adenocarcinoma patients using formalin-fixed paraffin-embedded samples. Furthermore, we performed an integrated analysis of gene expression, methylation, somatic mutations, copy number variations, and proteomic profiles on an independent cohort of 468 patients from The Cancer Genome Atlas (TCGA). Results: Stage I lung cancer patients (N= 351) identified as highrisk by the 10-gene signature displayed a 4-fold increased risk of death [HR= 3.98; 95% confidence interval (CI), 1.73-9.14], with a 3-yearoverall survivalof 84.2%(95%CI, 78.7-89.7) comparedwith 95.6%(92.4-98.8) inlow-risk patients. The analysisof TCGAcohort revealed that the 10-gene signature identifies a subgroup of stage I lung adenocarcinomas displaying distinct molecular characteristics and associated with aggressive behavior and poor outcome. Conclusions: We validated a 10-gene prognostic signature capable of identifying a molecular subtype of stage I lung adenocarcinoma with characteristics remarkably similar to those of advanced lung cancer. We propose that our signature might aid the identification of stage I patients who would benefit from multimodality treatment